Prática de Shadowing: Ataxia Series: The ataxia exam - Phenomenology, classification, and a practical diagnostic roadmap - Aprenda a falar inglês com o YouTube
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Hello and welcome to the NDS podcast,
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Hello and welcome to the NDS podcast,
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the official podcast of the International Parkinson's and Movement Disorders Society.
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I am Orlando Barsotini, professor of neurology at Federal University of Sao Paulo, Brazil.
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And today I'm here with Dr. Bartz van de Varenboer.
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He is professor of neurology and head of Expert Center for Rare and Genetic Movement Disorders at Radboud University Medical Center.
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Today we are discussing the topic,
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the ataxia exam, phenomenology, classification, and practical diagnosis roadmap.
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Bart, thank you for joining us.
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Hi, Orlando.
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Thank you for having me.
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It's a real pleasure to contribute to this podcast series on attack shares.
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Bart, as we have different forms of ataxia,
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including, for example, cerebellar ataxia,
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sensory ataxia, and sometimes a combination of both.
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Could you tell us about your clinical approach with emphasis on the gait examination and phenomenology, please?
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Sure.
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Many patients with cerebellar disease will notice gait difficulties as the very first manifestation.
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If you see a patient with a gait ataxia,
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indeed, we first have to establish that this is actually of cerebellar origin origin.
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And I think people often think of cerebellar ataxia gate as being broad-based,
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but this is actually a compensatory element that kicks in later in the disease.
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And interesting thing is that the phenomenology of gate ataxia changes during disease progression.
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So in the very early stages,
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patients might only have an abnormal tandem gate performance and perhaps a slightly hesitant first step after return.
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And what happens next is actually not the broad-based element, but variability.
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Variability as the keyword and variability in step length and step width.
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The patient starts to deviate from the straight line to both sides.
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Some of them will have a relatively high gait speed.
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And this is something interesting.
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You And you can also play with the gait,
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ask patients, if you see this,
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to slow down a bit or perform the tandem gait a bit slower, perhaps.
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And then later, you will see the broad-based gait kicking in and the gait slowing down.
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And sometimes you see stiffening of the knees,
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again, as a compensatory element.
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So you see the dynamics of gait ataxia as disease progresses and it's intertwined with these changing compensatory efforts.
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And in the next stage,
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patients will need to use supportive devices,
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otherwise they will fall because of their severe balance difficulties.
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And I think, as you mentioned,
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we have to rule out other neuroanatomical sources of Atexia,
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sensory causes for which we will do the full sensory examination and see what happens through the gait upon eye closure.
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You want to rule out the frontal type of Atexia or a more modern term,
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higher level gait disorder.
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in which you will expect disproportionate balance difficulties,
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often also with cognitive changes.
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And lastly, I think a vestibular origin in which patients next to having complaints like dizziness,
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et cetera, will have gait deviation typically to one side consistently.
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And then we will need to look for additional cerebellar signs in the rest of the exam.
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And I think many of us as movement disorders experts put a lot of time
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and effort into the examination of the eye movements,
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and the cerebellar disease, you will expect,
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for example, to find fixation instability,
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square wave jerks, jerky pursuit,
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case evoked or downbeat nystagmus, and hypermetric saccades.
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You can perhaps hear cerebellar discharge via scanning speech,
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and find upper limb ataxia in the form of dysmetria and intention tremor.
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Bart, the topic of classification of Ataxia sometimes is not so clear,
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especially for no expert.
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You'll discuss a little bit more about the classification of Ataxia.
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There are hundreds of conditions that can lead to Ataxia
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and I think there have been many attempts to classify Ataxia from a practical or research perspective.
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This turns out to be very complex, easily outdated as well.
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I myself use a very simple framework that guides me through my thinking and practical workup.
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So I separate three main groups of Atexias.
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So we have acquired Atexias,
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we have genetic Atexias, and we have non-genetic degenerative Atexias.
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For example, the cerebellar type multiple system atrophy.
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That said, I think for the genetic ataxias,
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MDS study group on the genetic nomenclature movement disorders has done a very good job in listing the confirmed ataxia genes.
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But still many of us still use the old terms,
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for example, SCAR or SCA for the dominant ataxias.
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I think that's what it is.
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But again,
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I want to refer to my very simple framework as a way to provide guidance in what we think
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and do when confronted with an ataxia patient.
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Mark, like you said, we have different forms of the taxa,
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including acquired genetic and no genetic taxa.
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I have two questions now.
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What is the diagnostic roadmap you suggest for these different forms of the taxa?
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And what would be the importance of complementary exams such as brain MRI,
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GSF, and BetGun, all the classification and identification of different forms of detoxing?
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Yes, Orlando, to start with your second part,
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perhaps I think all the investigations should serve a purpose and in this scenario,
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trying to reach a diagnosis for a patient and not serving classification purposes unless it's for a research effort.
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In line with other movement disorders,
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I think history is really key and elements of the history will guide our differential tremendously.
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So things like onset age,
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rate of progression, the family,
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medical history, current drugs, et cetera, are of utmost importance.
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In general, I think we need to keep in mind that acquired causes of etectia are the most common ones.
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And what I use of these elements in the history most is perhaps the type of progression,
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the rate of progression.
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So if this is acute or subacute,
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the cause will most likely be acquired.
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And you will do the MRI.
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You will rule out drugs,
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metabolic causes, check for perineoplastic or other immune-mediated diseases, consider prion, et cetera.
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The second interesting presentation progression worries is if the ataxia is purely episodic.
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Because if this is the case,
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then the number of differential diagnostic groups to consider is very limited because generally this will either be something autoimmune,
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for example, anti-GAD or anti-Casper 2 antibodies,
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or be genetic like SCAR-27B or Kekna-1 and others.
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I think the most challenging category is the slowly progressive ataxia.
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And there, if you have a family history,
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this will be very helpful.
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And then you can jump to your genetics, I guess, immediately.
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But if not, you're left with a sporadic, slowly progressive ataxia.
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And then you still have this large differential covering all the three groups we just discussed.
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And I think in that scenario,
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we will also start with repressing for the MRI scan,
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ruling out acquired diseases and searching for clues pointing to a specific rare condition perhaps.
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We will do some minimal blood tests to rule out acquired causes like anti-GAD and the vitamins,
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etc. And then we will also do genetics in this sporadic, slowly progressive retexias.
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And here we want to make sure that we have access to testing the genes with repeat expansions as the mutational mechanism.
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These are the most common ones.
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And I think most labs are still doing this as separate tests.
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So what you request, make sure that the lab tests for these repeat expansions.
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This will change if we all have access to long read sequencing in the future.
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If repeats are negative, you can also look for the other non-repeat ataxia genes if you have access to next-generation sequencing platforms.
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And if the genes are negative,
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I think the next step is to consider whether your patient
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with the slowly progressive sporadic ataxia could perhaps have a cerebellar subtype of MSA.
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And I think the 2022 MDS criteria are very helpful to have a look at
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because I think these criteria would guide you through the workup
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to see whether your patient actually has clinically established a probable MSA.
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And if not, then your final interim diagnosis will be the sporadic adult onset detection
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or the over-term idiopathic late onset detection, ILOCA.
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And I think you have to follow up those patients.
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Follow up because new genes will come out and it might be useful to retest your patients.
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And I think the relatively recent discovery of SCAR-27B is a good example
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because this now explains many of the patients that we previously labeled as being ILoka.
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And I think you should be aware that patients can still convert to MSAC.
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There's also a reason to keep them in follow-up.
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Okay.
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Bart, now I have one of the most difficult tests for you.
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In the new era of technology and AI,
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with genetic testing become more available,
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Do you think that clinical skills will have a place in the evaluation of patients with a doctor?
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That's indeed a difficult question,
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Orlando, and my answer is clear.
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This is a yes.
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I know there are people who promote a genotype first strategy.
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I'm myself not an advocate of that.
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I strongly believe that you need a good,
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robust and certain phenotype to enter genetics.
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And the reason is that genetic testing often leads also to a variant of unknown significance.
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And if you have an uncertain phenotype to begin with and a vast from your genetics,
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then you are in trouble.
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So I think good phenotype to begin with is key.
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And the other aspect I want to mention is what we have been calling reverse phenotyping.
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So if you get a genetic test result back,
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you want to be sure that this can be matched to the patient's phenotype clinically and or radiologically.
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And for this, you really need to have done the full examination
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because many of the ataxia conditions will present with relevant non-ataxia features.
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Think about ataxia plus neuropathy or spasticity or dystonia.
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And these non-ataxia features can actually be quite discriminating and help you in this reverse phenotyping process.
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On the other hand, I think machine learning AI will be our new right hand in our work,
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clinical work and scientific work.
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And as an example, we are seeing machine learning-based analyses of gait and speech disturbances that can objectively quantify,
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track disease status and disease progression.
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And this we can deploy in clinical trials that are emerging.
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So there's certainly a place for AI machine learning in our etexia approach,
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in the clinics, in the research setting,
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what it will be next to and together with doctors and scientists.
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Okay, particularly I'm very happy with your answer.
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We are nearing the end of our interview.
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And now, what are the take-home methods to our listeners?
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The take-home message for me is that keep the clinical skills,
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do the full neurological examination in the patient
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and invest particularly in trying to pin down the cerebellar origin of the movement disorder you were confronted with.
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Play with the gait.
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Be mindful that gait detection is a dynamic feature.
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with the compensatory elements, for example,
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in modifying the speed of the gate task you are asking the patient to do.
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And what a nice thing is,
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Alando, I'm still learning myself as well.
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So I've been tweaking my neurological history,
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taking an examination along the ride.
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And as an example, a couple of years ago,
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the gene for the Kahn-Vas syndrome,
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so cerebellar dexia, neuropathy and vestibular earflexia syndrome was discovered expansions in rc1
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and based on those phenotypic descriptions i've been adding a question on chronic cough to my history
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and adding i had impulse tests to my examination
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so second message is don't stop learning perfect thank you bart for sharing these insights
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and thank you to our listeners for joining us.
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We hope this episode helped you approach a tax patient with greater confidence as a procedure.
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The views
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and opinions expressed by the participants in this podcast do not necessarily reflect those of the International Parkinson
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and Movement Disorders Society or their affiliated journals,
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Movement Disorders and Movement Disorders Clinical Practice.
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Any disclosures of the participants can be found within the episode description located on the MDS website.
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Por que praticar a fala com este vídeo?
O vídeo "Ataxia Series: The ataxia exam" oferece uma oportunidade única para praticar a fala em inglês enquanto aprende sobre um tema de grande relevância na área da neurologia e distúrbios do movimento. Ao ouvir e repetir as falas de especialistas, você pode aprimorar sua pronúncia e fluência. O método de shadow speak, ou shadowing em inglês, é altamente eficaz nesse contexto, pois permite que você imite o ritmo e a entonação dos falantes nativos. Além disso, o conteúdo técnico do vídeo proporciona um vocabulário especializado que pode ser útil em estudos futuros ou em conversas profissionais.
Gramática & Expressões em Contexto
No vídeo, a discussão sobre a ataxia é rica em estruturas gramaticais e expressões que podem ser especialmente úteis para estudantes de inglês. Aqui estão algumas delas:
- “We have to establish that…” – Essa estrutura é uma maneira formal de indicar a necessidade de verificar algo. É muito utilizada em contextos acadêmicos e clínicos.
- “What happens next is actually…” – Uma forma de introduzir uma explicação ou uma sequência de eventos, útil para narrativas e apresentações.
- “You can also play with the gait…” – O uso do modal “can” traz um tom acessível e informal, permitindo que o falante sugira abordagens práticas.
Essas expressões ajudam a compreender melhor a forma como os especialistas se comunicam, e podem ser incorporadas ao seu vocabulário, principalmente ao praticar aprender inglês com youtube.
Armadilhas Comuns de Pronúncia
A pronúncia da língua inglesa pode apresentar desafios, especialmente com palavras técnicas e expressões menos comuns. No vídeo, alguns termos podem ser complicados, como:
- Ataxia – Esta palavra pode ser pronunciada incorretamente se você não estiver familiarizado com a fonética. A ênfase correta e a articulação ajudam a transmitir a ideia de maneira mais eficaz.
- Phenomenology – Uma palavra longa que requer prática para correta dicção. Preste atenção na acentuação.
- Cerebellar – A pronúncia dessa palavra é crucial para evitar confusões em discussões profissionais.
Utilize o método de shadowspeak para repetir esses termos e melhorar sua clareza ao falar. Com a prática regular e a repetição, você poderá superar essas armadilhas de pronúncia e se tornar mais confiante na sua comunicação em inglês.
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